Ovarian failure is a term for various diseases that have a common denominator - disrupted hormonal and reproductive functions of the ovaries. What are the causes and types of ovarian failure, and what are the symptoms? Is there an effective treatment for ovarian failure?
Ovarian failurecan be divided into primary failure and secondary failure. The causes of primary ovarian failure include premature ovarian failure and gonadal dysgenesis. In contrast, secondary ovarian failure is the result of hypogonadotrophic hypogonadism or hypopituitarism.
Primary ovarian failure
- Premature ovarian failure syndrome (POF)
Premature Ovarian Failure Syndrome is a heterogeneous multifactorial disorder that can develop over many years with periods of temporary improvement.
Means the loss of ovarian function before the age of 40, which is caused by genetic, chromosomal, enzymatic, infectious and iatrogenic factors.
Interestingly, this disorder can occur in the pre-pubertal period, during puberty, and during the reproductive period. The syndrome affects 1/100 women in their 40s and 1/1000 women in their 30s.
The main symptoms of premature ovarian failure include amenorrhea, vegetative symptoms (occurring in about 50% of women with this disorder), as well as hypoestrogenism and increased blood levels of gonadotropins.
The diagnosis of POF is based on double measurements of serum FSH (follicle stimulating hormone) levels at intervals of more than 1 month. FSH values greater than 40 IU / L indicate premature ovarian failure.
Additionally, evaluation of adrenal and thyroid function is recommended. It is useful to measure the concentration of AMH, which is produced by granulosa cells - in POF its concentration is usually low or undetectable.
The treatment involves the replacement of ovarian hormones. In addition, regular examinations of patients are very important in order to control the hormone treatment and, if necessary, detect any accompanying diseases.
Teampremature ovarian failure is temporary in 3-5% of cases, and after some time menstruation may resume and you may even become pregnant.
- Gonadal dysgenesis
A dysgenetic gonad is an organ that lacks reproductive cells that are characteristic of the ovaries or testes, and that consists mainly of fibrous connective tissue.
Causes of gonadal dysgenesis include pure gonadal dysgenesis with 46, XX karyotype, pure gonadal dysgenesis with 46, XY karyotype (known as Swyer syndrome) and Turner syndrome.
Pure gonadal dysgenesis with 46, XX karyotype
The following features are found in patients:
- primary amenorrhea
- correct body shape
- correct intellectual development
- sexual infantilism
- presence of bilateral dysgenetic gonads
In addition, they have female genitalia, and after puberty with normal hair, breasts do not develop.
Blood laboratory tests show an increased concentration of gonadotropins with decreased estrogen levels.
There is sometimes a slight hyperandrogenism. Ovarian hormones are used in the treatment.
Pure gonadal dysgenesis with 46, XY karyotype (Swyer syndrome)
In this case, the patients have the following features:
- primary amenorrhea
- correct or tall
- sexual infantilism
- female phenotype
In addition, there are internal genitalia - the uterus, fallopian tubes and ovaries.
Due to the risk of germ cell development, dysgenetic gonads are removed prophylactically. In addition, ovarian hormones are used.
Turner syndrome
Turner syndrome is an inherited disorder that results from the loss of some or all of the genetic material of one of the two X chromosomes.
It is characterized by the presence of many defects in the patient - defects of the cardiovascular system, skeletal system, neck, chest and nails.
In addition, there are short stature, disturbed body proportions and the presence of bilateral dysgenetic gonads (in most patients).
It is worth mentioning at this point that some patients may have a karyotype 45, X and some a mosaic karyotype - in these people it is possible to have periods and even become pregnant.
The diagnosis of Turner syndrome is made of, inter alia, determination of serum FSH concentration - higher than 40 IU / l and ultrasound of the pelvic organs - no gonads can be foundor small gonads without bubbles, as well as a small uterus.
Additionally, an X-ray of the skeletal system is performed - changes in the metacarpal and vertical extension of the internal process of the femur are characteristic.
The treatment uses an appropriate diet (especially important for obese patients), pre-pubertal growth hormone and ovarian hormones - therapy begins with low doses of estrogen in people aged 14, and then hormone replacement therapy is applied.
Prophylactic surgical removal of the gonad is performed when the Y chromosome is present.
Secondary ovarian failure
The essence of secondary ovarian failure is a disorder within the hypothalamic-pituitary system. It results from the so-called hypogonadotrophic hypogonadism or pituitary insufficiency.
This is manifested by primary or secondary amenorrhea as well as the normal development of secondary sexual characteristics.
The presence of a low concentration of ovarian hormones and gonadotrophins is characteristic in blood laboratory tests.
In the diagnosis of secondary ovarian failure, great importance is attached to brain magnetic resonance imaging with the assessment of the hypothalamic-pituitary region. Thanks to it, it is possible to recognize a pituitary tumor or other changes originating in the surrounding structures.
- Hypogonadotrophic hypogonadism
Hypogonadotrophic hypogonadism is usually an acquired disorder that results from a defect in GnRH (gonadoliberin) secretion from the hypothalamus.
May also be genetically determined by chromosomal abnormalities or mutations of individual genes. There are also cases in which acquired causes have been excluded and genetic determinants have not been identified - this is the so-called idiopathic or isolated hypogonadotrophic hypogonadism.
This disorder is characterized by incomplete development or lack of ovarian function, manifested as primary or secondary amenorrhea, and in the case of primary amenorrhea, also by the absence of major pubertal features (including breast development, pubic hair development).
Due to the lack of GnRH secretion from the hypothalamus, laboratory tests of blood show low concentrations of gonadotropins - FSH and LH.
It is worth mentioning here that hypogonadotrophic hypogonadism can also occur in young women as a result of stress, excessive physical activity or eating disorders, such as anorexia nervosa and bulimia nervosa.
The result of starvation of the body are menstrual disorders and infertility - it has been proventhat the constant reduction of the calorific value of food consumed below 800 kcal / d leads to functional hypothalamic amenorrhea.
In the treatment of idiopathic hypogonadotrophic hypogonadism, sex hormones are used, and to enable pregnancy - pulsatile gonadotrophins or GnRH are administered.
The treatment of disorders resulting from improper eating and excessive exercise is also very important - its main goal is to recreate the menstrual cycle and ovulation, and also to modify the lifestyle.
- Hypopituitarism
Hypopituitarism is a symptom complex that results from a deficiency of one or more pituitary hormones. In the case of secondary ovarian failure, a deficiency in the secretion of gonadotrophins - LH and FSH is important.
The most important causes of hypopituitarism include neoplasms, cranial injuries, vascular disorders, inflammatory and infiltrative changes, congenital or developmental disorders, and iatrogenic damage.
Diagnosis is based on clinical signs of secondary ovarian failure and a reduced concentration of gonadotrophins. It is also very helpful to perform an MRI of the brain with the assessment of the hypothalamic-pituitary area in order to exclude the presence of the proliferative process.
In treatment, it is important to compensate for hormonal deficiencies - in women, estrogens and gestagens are administered sequentially.
On the other hand, the presence of a neoplasm requires surgical removal with the possible use of radiotherapy or chemotherapy.